ClinVar Miner

List of variants studied for Myasthenic syndrome, congenital, 22

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Minimum conflict level:
ClinVar version:
Total variants: 650
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HGVS dbSNP gnomAD frequency
NM_001171613.2(PREPL):c.1087-47A>G rs2033951 0.72581
NM_001171613.2(PREPL):c.1828-29A>G rs2241871 0.68299
NM_001171613.2(PREPL):c.143-19C>T rs10514790 0.04940
NM_001171613.2(PREPL):c.-49+1898A>G rs77060839 0.04787
NM_001171613.2(PREPL):c.225T>A (p.Ala75=) rs72875319 0.03485
NM_001171613.2(PREPL):c.1502A>G (p.Asn501Ser) rs75128515 0.01014
NM_001171613.2(PREPL):c.1086+15C>T rs76399930 0.00695
NM_001171613.2(PREPL):c.1656A>G (p.Ala552=) rs74395208 0.00617
NM_001171613.2(PREPL):c.1630-15T>C rs113850456 0.00614
NM_001171613.2(PREPL):c.1855G>A (p.Glu619Lys) rs149012504 0.00562
NM_001171613.2(PREPL):c.-49+1813A>T rs78349078 0.00557
NM_001171613.2(PREPL):c.1595A>G (p.Lys532Arg) rs111438719 0.00218
NM_001171613.2(PREPL):c.687A>G (p.Glu229=) rs113272276 0.00209
NM_001171613.2(PREPL):c.940A>T (p.Asn314Tyr) rs140990611 0.00186
NM_001171613.2(PREPL):c.149A>G (p.Asn50Ser) rs138555092 0.00151
NM_001171613.2(PREPL):c.1479+8C>T rs202009058 0.00097
NM_001171613.2(PREPL):c.-49+1740C>A rs145322905 0.00089
NM_001171613.2(PREPL):c.917T>C (p.Met306Thr) rs150182073 0.00071
NM_001171613.2(PREPL):c.68A>G (p.Asn23Ser) rs138377728 0.00070
NM_001171613.2(PREPL):c.967A>G (p.Ile323Val) rs143785426 0.00051
NM_001171613.2(PREPL):c.1844A>G (p.Lys615Arg) rs138348037 0.00049
NM_001171613.2(PREPL):c.444T>C (p.Asp148=) rs149836496 0.00049
NM_001171613.2(PREPL):c.450A>C (p.Lys150Asn) rs142981913 0.00049
NM_001171613.2(PREPL):c.75+17C>G rs375409764 0.00046
NM_001171613.2(PREPL):c.1542A>C (p.Glu514Asp) rs138237715 0.00039
NM_001171613.2(PREPL):c.1135G>C (p.Asp379His) rs140165185 0.00032
NM_001171613.2(PREPL):c.516C>T (p.Asp172=) rs138620283 0.00032
NM_001171613.2(PREPL):c.594C>T (p.Asp198=) rs373041097 0.00032
NM_001171613.2(PREPL):c.562G>A (p.Val188Met) rs150341120 0.00031
NM_001171613.2(PREPL):c.-49+1746T>G rs146729699 0.00029
NM_001171613.2(PREPL):c.-49+1881A>G rs199938599 0.00028
NM_001171613.2(PREPL):c.-49+1883G>T rs199854790 0.00027
NM_001171613.2(PREPL):c.750A>G (p.Leu250=) rs146874807 0.00022
NM_001171613.2(PREPL):c.1629+12C>T rs371909871 0.00021
NM_001171613.2(PREPL):c.1791T>C (p.Pro597=) rs189954086 0.00021
NM_001171613.2(PREPL):c.1629+14A>G rs748376274 0.00019
NM_001171613.2(PREPL):c.1086+8T>G rs374029150 0.00018
NM_001171613.2(PREPL):c.1480-6T>C rs756590077 0.00016
NM_001171613.2(PREPL):c.453T>C (p.Arg151=) rs368239846 0.00015
NM_001171613.2(PREPL):c.485+13T>C rs13395913 0.00015
NM_001171613.2(PREPL):c.1221C>T (p.Val407=) rs749676469 0.00014
NM_001171613.2(PREPL):c.1849C>G (p.Leu617Val) rs150477781 0.00014
NM_001171613.2(PREPL):c.1906C>T (p.Leu636=) rs147585967 0.00013
NM_001171613.2(PREPL):c.249C>G (p.Ala83=) rs773977540 0.00013
NM_001171613.2(PREPL):c.702+17G>A rs375710277 0.00013
NM_001171613.2(PREPL):c.1155C>G (p.Leu385=) rs149866553 0.00012
NM_001171613.2(PREPL):c.1726G>A (p.Ala576Thr) rs145230776 0.00012
NM_001171613.2(PREPL):c.1727C>T (p.Ala576Val) rs202130215 0.00012
NM_001171613.2(PREPL):c.1747G>C (p.Gly583Arg) rs758234210 0.00012
NM_001171613.2(PREPL):c.349+13C>T rs756110874 0.00012
NM_001171613.2(PREPL):c.-49+1808A>T rs145087654 0.00011
NM_001171613.2(PREPL):c.1164T>C (p.His388=) rs375606179 0.00011
NM_001171613.2(PREPL):c.393C>T (p.Thr131=) rs200491145 0.00011
NM_001171613.2(PREPL):c.833A>G (p.Asn278Ser) rs371862757 0.00011
NM_001171613.2(PREPL):c.1467G>A (p.Ala489=) rs140525819 0.00010
NM_001171613.2(PREPL):c.1619T>C (p.Ile540Thr) rs201400293 0.00010
NM_001171613.2(PREPL):c.1059C>T (p.Arg353=) rs191502460 0.00009
NM_001171613.2(PREPL):c.1753+1G>T rs148092524 0.00009
NM_001171613.2(PREPL):c.1868T>A (p.Leu623His) rs746165384 0.00009
NM_001171613.2(PREPL):c.1887C>T (p.Phe629=) rs368734097 0.00009
NM_001171613.2(PREPL):c.1520C>A (p.Thr507Lys) rs773867044 0.00008
NM_001171613.2(PREPL):c.1783A>T (p.Ile595Phe) rs200605467 0.00008
NM_001171613.2(PREPL):c.329T>C (p.Phe110Ser) rs777176046 0.00008
NM_001171613.2(PREPL):c.1827+15C>T rs376714746 0.00007
NM_001171613.2(PREPL):c.508A>G (p.Thr170Ala) rs560481380 0.00007
NM_001171613.2(PREPL):c.1169A>G (p.Tyr390Cys) rs757204599 0.00006
NM_001171613.2(PREPL):c.1289G>C (p.Trp430Ser) rs760033510 0.00006
NM_001171613.2(PREPL):c.1455G>A (p.Glu485=) rs376716463 0.00006
NM_001171613.2(PREPL):c.1510A>T (p.Met504Leu) rs369887158 0.00006
NM_001171613.2(PREPL):c.1647C>T (p.His549=) rs950736240 0.00006
NM_001171613.2(PREPL):c.1806A>G (p.Val602=) rs771937635 0.00006
NM_001171613.2(PREPL):c.282C>G (p.Thr94=) rs200854824 0.00006
NM_001171613.2(PREPL):c.350-12A>G rs746840354 0.00006
NM_001171613.2(PREPL):c.364G>A (p.Glu122Lys) rs147671673 0.00006
NM_001171613.2(PREPL):c.659A>C (p.Glu220Ala) rs370146295 0.00006
NM_001171613.2(PREPL):c.-36G>A rs147513483 0.00005
NM_001171613.2(PREPL):c.-49+1735A>G rs374974603 0.00005
NM_001171613.2(PREPL):c.-49+1866C>T rs202213424 0.00005
NM_001171613.2(PREPL):c.1665C>T (p.Asn555=) rs375673588 0.00005
NM_001171613.2(PREPL):c.1828-17T>A rs746448655 0.00005
NM_001171613.2(PREPL):c.40C>T (p.Gln14Ter) rs200761047 0.00005
NM_001171613.2(PREPL):c.-49+1888G>A rs575814799 0.00004
NM_001171613.2(PREPL):c.1066C>T (p.Arg356Cys) rs201468991 0.00004
NM_001171613.2(PREPL):c.1084A>G (p.Lys362Glu) rs146886697 0.00004
NM_001171613.2(PREPL):c.1105A>G (p.Met369Val) rs182854421 0.00004
NM_001171613.2(PREPL):c.1150C>G (p.Pro384Ala) rs780193886 0.00004
NM_001171613.2(PREPL):c.143-18G>A rs570783617 0.00004
NM_001171613.2(PREPL):c.1623A>G (p.Lys541=) rs768191033 0.00004
NM_001171613.2(PREPL):c.1642A>G (p.Ile548Val) rs151116193 0.00004
NM_001171613.2(PREPL):c.1725C>T (p.Ile575=) rs775908458 0.00004
NM_001171613.2(PREPL):c.1757A>G (p.Tyr586Cys) rs142051325 0.00004
NM_001171613.2(PREPL):c.206T>C (p.Ile69Thr) rs752887453 0.00004
NM_001171613.2(PREPL):c.283T>G (p.Cys95Gly) rs569491440 0.00004
NM_001171613.2(PREPL):c.604C>T (p.Leu202Phe) rs147910302 0.00004
NM_001171613.2(PREPL):c.716C>T (p.Ala239Val) rs778761279 0.00004
NM_001171613.2(PREPL):c.968T>G (p.Ile323Arg) rs926904705 0.00004
NM_001171613.2(PREPL):c.-49+1724A>C rs771527567 0.00003
NM_001171613.2(PREPL):c.-49+1780A>G rs769195229 0.00003
NM_001171613.2(PREPL):c.1294G>A (p.Ala432Thr) rs373786632 0.00003
NM_001171613.2(PREPL):c.1304G>A (p.Arg435His) rs768429131 0.00003
NM_001171613.2(PREPL):c.1411G>C (p.Ala471Pro) rs371299047 0.00003
NM_001171613.2(PREPL):c.1420G>A (p.Val474Met) rs780954540 0.00003
NM_001171613.2(PREPL):c.143-6A>G rs766088205 0.00003
NM_001171613.2(PREPL):c.1500C>G (p.Leu500=) rs751760140 0.00003
NM_001171613.2(PREPL):c.1597C>T (p.Arg533Cys) rs145088151 0.00003
NM_001171613.2(PREPL):c.1666G>A (p.Asp556Asn) rs191681889 0.00003
NM_001171613.2(PREPL):c.1753+17A>C rs752148765 0.00003
NM_001171613.2(PREPL):c.1760A>G (p.Gln587Arg) rs779401831 0.00003
NM_001171613.2(PREPL):c.1788G>A (p.Gln596=) rs759643353 0.00003
NM_001171613.2(PREPL):c.1797C>T (p.Gly599=) rs1481266767 0.00003
NM_001171613.2(PREPL):c.1828A>T (p.Ile610Phe) rs751603399 0.00003
NM_001171613.2(PREPL):c.266A>G (p.Asp89Gly) rs760040766 0.00003
NM_001171613.2(PREPL):c.410G>A (p.Arg137His) rs371309095 0.00003
NM_001171613.2(PREPL):c.420C>T (p.Asp140=) rs550765961 0.00003
NM_001171613.2(PREPL):c.455A>G (p.Asn152Ser) rs763348800 0.00003
NM_001171613.2(PREPL):c.553A>G (p.Thr185Ala) rs150028917 0.00003
NM_001171613.2(PREPL):c.798T>G (p.Phe266Leu) rs750048724 0.00003
NM_001171613.2(PREPL):c.888+1G>A rs758019788 0.00003
NM_001171613.2(PREPL):c.1042A>G (p.Ile348Val) rs893139776 0.00002
NM_001171613.2(PREPL):c.1503C>T (p.Asn501=) rs201427100 0.00002
NM_001171613.2(PREPL):c.1509G>A (p.Met503Ile) rs753863367 0.00002
NM_001171613.2(PREPL):c.1562C>G (p.Pro521Arg) rs778123136 0.00002
NM_001171613.2(PREPL):c.172A>G (p.Asn58Asp) rs370680461 0.00002
NM_001171613.2(PREPL):c.1854C>T (p.Tyr618=) rs375511535 0.00002
NM_001171613.2(PREPL):c.1888G>A (p.Glu630Lys) rs892455452 0.00002
NM_001171613.2(PREPL):c.277T>A (p.Ser93Thr) rs373911326 0.00002
NM_001171613.2(PREPL):c.293T>C (p.Ile98Thr) rs370296906 0.00002
NM_001171613.2(PREPL):c.299T>C (p.Leu100Pro) rs755031960 0.00002
NM_001171613.2(PREPL):c.363C>T (p.Asp121=) rs183365746 0.00002
NM_001171613.2(PREPL):c.427C>T (p.Arg143Ter) rs1361739547 0.00002
NM_001171613.2(PREPL):c.503A>G (p.Tyr168Cys) rs775248800 0.00002
NM_001171613.2(PREPL):c.517A>G (p.Ser173Gly) rs758838556 0.00002
NM_001171613.2(PREPL):c.552T>G (p.Thr184=) rs774450920 0.00002
NM_001171613.2(PREPL):c.616C>T (p.Arg206Ter) rs145356495 0.00002
NM_001171613.2(PREPL):c.703-5C>T rs758435946 0.00002
NM_001171613.2(PREPL):c.747T>A (p.Asp249Glu) rs761270066 0.00002
NM_001171613.2(PREPL):c.-15C>A rs747135582 0.00001
NM_001171613.2(PREPL):c.-22C>T rs148810409 0.00001
NM_001171613.2(PREPL):c.-28A>G rs924063417 0.00001
NM_001171613.2(PREPL):c.-42del rs749853265 0.00001
NM_001171613.2(PREPL):c.-49+1674A>G rs1677455092 0.00001
NM_001171613.2(PREPL):c.-49+1678C>G rs1217582584 0.00001
NM_001171613.2(PREPL):c.-49+1707A>G rs767151252 0.00001
NM_001171613.2(PREPL):c.-49+1734C>T rs374594354 0.00001
NM_001171613.2(PREPL):c.-49+1744A>G rs753994518 0.00001
NM_001171613.2(PREPL):c.-49+1814G>A rs963472046 0.00001
NM_001171613.2(PREPL):c.-49+1839T>C rs375878651 0.00001
NM_001171613.2(PREPL):c.-49+1857A>G rs1677431287 0.00001
NM_001171613.2(PREPL):c.1000G>T (p.Ala334Ser) rs778521381 0.00001
NM_001171613.2(PREPL):c.1055G>C (p.Ser352Thr) rs182129466 0.00001
NM_001171613.2(PREPL):c.1058G>A (p.Arg353His) rs766402014 0.00001
NM_001171613.2(PREPL):c.1069C>G (p.Leu357Val) rs1357123285 0.00001
NM_001171613.2(PREPL):c.1086+11T>C rs747536626 0.00001
NM_001171613.2(PREPL):c.1086+4G>A rs781546038 0.00001
NM_001171613.2(PREPL):c.1087-9C>G rs755166149 0.00001
NM_001171613.2(PREPL):c.1184T>C (p.Met395Thr) rs763916560 0.00001
NM_001171613.2(PREPL):c.1185G>A (p.Met395Ile) rs762704106 0.00001
NM_001171613.2(PREPL):c.1216C>T (p.Arg406Trp) rs762344284 0.00001
NM_001171613.2(PREPL):c.1225G>T (p.Val409Leu) rs1287814553 0.00001
NM_001171613.2(PREPL):c.1227G>A (p.Val409=) rs770075037 0.00001
NM_001171613.2(PREPL):c.1230T>C (p.Asp410=) rs948010275 0.00001
NM_001171613.2(PREPL):c.1244T>C (p.Leu415Ser) rs1430753619 0.00001
NM_001171613.2(PREPL):c.124C>T (p.Arg42Cys) rs367690689 0.00001
NM_001171613.2(PREPL):c.1256A>G (p.His419Arg) rs1470203044 0.00001
NM_001171613.2(PREPL):c.1262+18A>G rs1423411588 0.00001
NM_001171613.2(PREPL):c.1262+1G>A rs1172015222 0.00001
NM_001171613.2(PREPL):c.1262G>A (p.Arg421Gln) rs754572953 0.00001
NM_001171613.2(PREPL):c.1263-12C>T rs1275787716 0.00001
NM_001171613.2(PREPL):c.1263-1G>C rs1316112168 0.00001
NM_001171613.2(PREPL):c.1266T>C (p.Gly422=) rs755648962 0.00001
NM_001171613.2(PREPL):c.1300G>A (p.Gly434Ser) rs1240292748 0.00001
NM_001171613.2(PREPL):c.1356G>A (p.Thr452=) rs944899015 0.00001
NM_001171613.2(PREPL):c.1368A>C (p.Gln456His) rs760125213 0.00001
NM_001171613.2(PREPL):c.1396C>G (p.Leu466Val) rs772025933 0.00001
NM_001171613.2(PREPL):c.1406T>G (p.Phe469Cys) rs749238316 0.00001
NM_001171613.2(PREPL):c.142+17C>G rs762928182 0.00001
NM_001171613.2(PREPL):c.1546G>A (p.Glu516Lys) rs1367878747 0.00001
NM_001171613.2(PREPL):c.1558A>C (p.Asn520His) rs371835756 0.00001
NM_001171613.2(PREPL):c.1591A>G (p.Ile531Val) rs1673166427 0.00001
NM_001171613.2(PREPL):c.1610A>G (p.Tyr537Cys) rs761490421 0.00001
NM_001171613.2(PREPL):c.1629+9A>C rs1247136692 0.00001
NM_001171613.2(PREPL):c.1630-3del rs1406333731 0.00001
NM_001171613.2(PREPL):c.1631A>T (p.His544Leu) rs768704646 0.00001
NM_001171613.2(PREPL):c.163G>C (p.Val55Leu) rs1422302131 0.00001
NM_001171613.2(PREPL):c.1673G>A (p.Arg558Gln) rs140355063 0.00001
NM_001171613.2(PREPL):c.1685A>T (p.Lys562Ile) rs377760743 0.00001
NM_001171613.2(PREPL):c.1701T>C (p.Tyr567=) rs1340727501 0.00001
NM_001171613.2(PREPL):c.1711C>G (p.Leu571Val) rs1282041334 0.00001
NM_001171613.2(PREPL):c.1713C>G (p.Leu571=) rs749490971 0.00001
NM_001171613.2(PREPL):c.1748G>A (p.Gly583Asp) rs752333096 0.00001
NM_001171613.2(PREPL):c.1753+5G>A rs1380245814 0.00001
NM_001171613.2(PREPL):c.1753+7G>C rs768510947 0.00001
NM_001171613.2(PREPL):c.1754-20C>T rs1192640537 0.00001
NM_001171613.2(PREPL):c.1796G>A (p.Gly599Asp) rs537911061 0.00001
NM_001171613.2(PREPL):c.1808T>C (p.Ile603Thr) rs748104886 0.00001
NM_001171613.2(PREPL):c.1827+9T>C rs748870270 0.00001
NM_001171613.2(PREPL):c.1872C>T (p.Asp624=) rs1359281085 0.00001
NM_001171613.2(PREPL):c.1881T>A (p.Ser627Arg) rs1310992094 0.00001
NM_001171613.2(PREPL):c.217A>G (p.Arg73Gly) rs375731883 0.00001
NM_001171613.2(PREPL):c.22A>G (p.Arg8Gly) rs137924736 0.00001
NM_001171613.2(PREPL):c.234A>G (p.Glu78=) rs1572895650 0.00001
NM_001171613.2(PREPL):c.276A>T (p.Ala92=) rs771393231 0.00001
NM_001171613.2(PREPL):c.301A>G (p.Ser101Gly) rs779895293 0.00001
NM_001171613.2(PREPL):c.30A>G (p.Lys10=) rs1442379605 0.00001
NM_001171613.2(PREPL):c.313G>A (p.Val105Ile) rs763621305 0.00001
NM_001171613.2(PREPL):c.318G>A (p.Met106Ile) rs1231458004 0.00001
NM_001171613.2(PREPL):c.350-6T>C rs1386526801 0.00001
NM_001171613.2(PREPL):c.375A>G (p.Glu125=) rs367827160 0.00001
NM_001171613.2(PREPL):c.404A>C (p.Asn135Thr) rs1358654485 0.00001
NM_001171613.2(PREPL):c.419A>T (p.Asp140Val) rs367992937 0.00001
NM_001171613.2(PREPL):c.422T>G (p.Val141Gly) rs1675330234 0.00001
NM_001171613.2(PREPL):c.425A>G (p.Tyr142Cys) rs778744293 0.00001
NM_001171613.2(PREPL):c.451C>T (p.Arg151Cys) rs752120139 0.00001
NM_001171613.2(PREPL):c.460C>T (p.Arg154Cys) rs146183409 0.00001
NM_001171613.2(PREPL):c.538A>G (p.Ile180Val) rs1266141014 0.00001
NM_001171613.2(PREPL):c.582G>A (p.Leu194=) rs770447445 0.00001
NM_001171613.2(PREPL):c.592G>A (p.Asp198Asn) rs748610072 0.00001
NM_001171613.2(PREPL):c.639T>C (p.Tyr213=) rs767656657 0.00001
NM_001171613.2(PREPL):c.644A>G (p.Glu215Gly) rs757445054 0.00001
NM_001171613.2(PREPL):c.649A>G (p.Arg217Gly) rs751520171 0.00001
NM_001171613.2(PREPL):c.664T>C (p.Tyr222His) rs764951966 0.00001
NM_001171613.2(PREPL):c.67A>G (p.Asn23Asp) rs369131230 0.00001
NM_001171613.2(PREPL):c.703-4G>A rs185432623 0.00001
NM_001171613.2(PREPL):c.717G>A (p.Ala239=) rs754793038 0.00001
NM_001171613.2(PREPL):c.723T>C (p.Asp241=) rs753702774 0.00001
NM_001171613.2(PREPL):c.75+15G>T rs376068245 0.00001
NM_001171613.2(PREPL):c.760A>G (p.Met254Val) rs771442588 0.00001
NM_001171613.2(PREPL):c.76G>T (p.Val26Phe) rs1241633455 0.00001
NM_001171613.2(PREPL):c.7G>A (p.Ala3Thr) rs779882139 0.00001
NM_001171613.2(PREPL):c.814C>G (p.Leu272Val) rs1209850032 0.00001
NM_001171613.2(PREPL):c.818T>C (p.Phe273Ser) rs1347512792 0.00001
NM_001171613.2(PREPL):c.852G>A (p.Val284=) rs1319728552 0.00001
NM_001171613.2(PREPL):c.871T>A (p.Ser291Thr) rs755882009 0.00001
NM_001171613.2(PREPL):c.961T>C (p.Ser321Pro) rs1367770744 0.00001
NC_000002.11:g.(?_44507855)_(44549039_?)del
NC_000002.11:g.(?_44527090)_(44556271_?)del
NC_000002.11:g.(?_44547318)_(44556271_?)del
NC_000002.11:g.(?_44547318)_(44569711_?)del
NC_000002.11:g.(?_44547318)_(44586854_?)dup
NC_000002.11:g.(?_44548485)_(44586864_?)dup
NC_000002.11:g.(?_44548495)_(44571745_?)del
NC_000002.11:g.(?_44548495)_(44586854_?)del
NC_000002.11:g.(?_44549870)_(44556251_?)del
NC_000002.11:g.(?_44553841)_(44566512_?)del
NC_000002.11:g.(?_44565470)_(44566522_?)del
NC_000002.11:g.(?_44565470)_(44586854_?)del
NC_000002.11:g.(?_44573387)_(44586854_?)dup
NC_000002.11:g.44559541_44571008del
NC_000002.12:g.(?_44280696)_(44346410_?)del
NC_000002.12:g.(?_44280716)_(44346390_?)del
NC_000002.12:g.(?_44320179)_(44346410_?)del
NC_000002.12:g.(?_44321336)_(44346410_?)del
NC_000002.12:g.(?_44321336)_(44359735_?)del
NC_000002.12:g.(?_44321346)_(44359725_?)del
NC_000002.12:g.(?_44359487)_(44359725_?)del
NM_001171613.2(PREPL):c.-29A>G
NM_001171613.2(PREPL):c.-2A>G rs2104023319
NM_001171613.2(PREPL):c.-31_-28del rs1553360075
NM_001171613.2(PREPL):c.-36G>C rs147513483
NM_001171613.2(PREPL):c.-48-10C>T rs2104024279
NM_001171613.2(PREPL):c.-48-2A>G rs753545038
NM_001171613.2(PREPL):c.-48-2A>T
NM_001171613.2(PREPL):c.-48-7T>C
NM_001171613.2(PREPL):c.-48-9T>C
NM_001171613.2(PREPL):c.-49+1665A>C rs766377212
NM_001171613.2(PREPL):c.-49+1665A>G rs766377212
NM_001171613.2(PREPL):c.-49+1673G>A rs757367125
NM_001171613.2(PREPL):c.-49+1676G>C rs760360976
NM_001171613.2(PREPL):c.-49+1686T>C
NM_001171613.2(PREPL):c.-49+1689C>T rs2104272169
NM_001171613.2(PREPL):c.-49+1690T>C
NM_001171613.2(PREPL):c.-49+1691C>T rs943164834
NM_001171613.2(PREPL):c.-49+1696C>A
NM_001171613.2(PREPL):c.-49+1719C>T
NM_001171613.2(PREPL):c.-49+1740C>T
NM_001171613.2(PREPL):c.-49+1743C>T
NM_001171613.2(PREPL):c.-49+1749A>T rs1211012506
NM_001171613.2(PREPL):c.-49+1760C>T rs2104270696
NM_001171613.2(PREPL):c.-49+1761T>G
NM_001171613.2(PREPL):c.-49+1763C>T
NM_001171613.2(PREPL):c.-49+1765C>T
NM_001171613.2(PREPL):c.-49+1778C>A
NM_001171613.2(PREPL):c.-49+1783G>C rs1572594874
NM_001171613.2(PREPL):c.-49+1784A>G rs773880492
NM_001171613.2(PREPL):c.-49+1784A>T rs773880492
NM_001171613.2(PREPL):c.-49+1791T>C
NM_001171613.2(PREPL):c.-49+1793G>A rs779251130
NM_001171613.2(PREPL):c.-49+1802T>A rs2104270031
NM_001171613.2(PREPL):c.-49+1806C>A rs749323802
NM_001171613.2(PREPL):c.-49+1806C>T
NM_001171613.2(PREPL):c.-49+1810C>G
NM_001171613.2(PREPL):c.-49+1820T>C
NM_001171613.2(PREPL):c.-49+1826dup
NM_001171613.2(PREPL):c.-49+1830C>T
NM_001171613.2(PREPL):c.-49+1839T>A
NM_001171613.2(PREPL):c.-49+1840C>T
NM_001171613.2(PREPL):c.-49+1843_-49+1844del
NM_001171613.2(PREPL):c.-49+1867G>A
NM_001171613.2(PREPL):c.-49+1891C>A
NM_001171613.2(PREPL):c.-49+1893_-49+1896del rs1572594172
NM_001171613.2(PREPL):c.1013T>C (p.Leu338Pro) rs750867025
NM_001171613.2(PREPL):c.1014G>A (p.Leu338=)
NM_001171613.2(PREPL):c.1015_1018del (p.Phe339fs) rs748639083
NM_001171613.2(PREPL):c.1017T>C (p.Phe339=) rs2103838543
NM_001171613.2(PREPL):c.1022A>G (p.Glu341Gly) rs1674225235
NM_001171613.2(PREPL):c.1029G>A (p.Gly343=)
NM_001171613.2(PREPL):c.102C>T (p.Tyr34=)
NM_001171613.2(PREPL):c.1033G>A (p.Glu345Lys)
NM_001171613.2(PREPL):c.1038C>G (p.Asp346Glu) rs1674223059
NM_001171613.2(PREPL):c.105A>G (p.Gln35=)
NM_001171613.2(PREPL):c.1067G>A (p.Arg356His)
NM_001171613.2(PREPL):c.1067G>T (p.Arg356Leu)
NM_001171613.2(PREPL):c.1071A>G (p.Leu357=)
NM_001171613.2(PREPL):c.1077C>G (p.Ala359=)
NM_001171613.2(PREPL):c.1086+11T>A rs747536626
NM_001171613.2(PREPL):c.1086+18C>A
NM_001171613.2(PREPL):c.1086+19A>G
NM_001171613.2(PREPL):c.1086+2T>C
NM_001171613.2(PREPL):c.1087-20T>C
NM_001171613.2(PREPL):c.1087-22_1087-19del rs781594204
NM_001171613.2(PREPL):c.1087-4C>G rs1572857344
NM_001171613.2(PREPL):c.1087G>T (p.Asp363Tyr)
NM_001171613.2(PREPL):c.1097T>A (p.Leu366Ter)
NM_001171613.2(PREPL):c.1104A>G (p.Pro368=)
NM_001171613.2(PREPL):c.1106T>C (p.Met369Thr)
NM_001171613.2(PREPL):c.1111G>A (p.Val371Ile)
NM_001171613.2(PREPL):c.1113T>G (p.Val371=)
NM_001171613.2(PREPL):c.1122A>G (p.Lys374=)
NM_001171613.2(PREPL):c.1134G>A (p.Glu378=)
NM_001171613.2(PREPL):c.1137C>G (p.Asp379Glu)
NM_001171613.2(PREPL):c.1140G>A (p.Leu380=)
NM_001171613.2(PREPL):c.1149A>G (p.Lys383=)
NM_001171613.2(PREPL):c.1153C>T (p.Leu385Phe)
NM_001171613.2(PREPL):c.1175C>G (p.Ala392Gly)
NM_001171613.2(PREPL):c.117C>T (p.Cys39=)
NM_001171613.2(PREPL):c.1214G>A (p.Arg405Lys)
NM_001171613.2(PREPL):c.1217G>A (p.Arg406Gln)
NM_001171613.2(PREPL):c.1224G>C (p.Leu408=) rs2103786137
NM_001171613.2(PREPL):c.1233T>C (p.Asp411=)
NM_001171613.2(PREPL):c.1235G>T (p.Gly412Val) rs1673812684
NM_001171613.2(PREPL):c.1237T>C (p.Trp413Arg)
NM_001171613.2(PREPL):c.1240A>T (p.Ile414Leu) rs2103785706
NM_001171613.2(PREPL):c.1242A>G (p.Ile414Met)
NM_001171613.2(PREPL):c.1250_1251del (p.Tyr417fs)
NM_001171613.2(PREPL):c.125G>A (p.Arg42His)
NM_001171613.2(PREPL):c.1261C>T (p.Arg421Ter) rs779879227
NM_001171613.2(PREPL):c.1262+11A>G
NM_001171613.2(PREPL):c.1262+19C>T
NM_001171613.2(PREPL):c.1263-18T>C
NM_001171613.2(PREPL):c.1263-7A>G
NM_001171613.2(PREPL):c.1264G>A (p.Gly422Ser) rs1470419476
NM_001171613.2(PREPL):c.126T>C (p.Arg42=)
NM_001171613.2(PREPL):c.1279G>C (p.Gly427Arg)
NM_001171613.2(PREPL):c.1293C>A (p.His431Gln)
NM_001171613.2(PREPL):c.1293C>T (p.His431=) rs760961704
NM_001171613.2(PREPL):c.1295C>T (p.Ala432Val)
NM_001171613.2(PREPL):c.1296T>C (p.Ala432=)
NM_001171613.2(PREPL):c.1302C>T (p.Gly434=) rs376023108
NM_001171613.2(PREPL):c.1305C>T (p.Arg435=)
NM_001171613.2(PREPL):c.1312A>G (p.Lys438Glu) rs1673555028
NM_001171613.2(PREPL):c.1337T>G (p.Leu446Ter) rs1553352792
NM_001171613.2(PREPL):c.1339G>T (p.Glu447Ter)
NM_001171613.2(PREPL):c.1355C>T (p.Thr452Met) rs774180242
NM_001171613.2(PREPL):c.135T>C (p.Asp45=)
NM_001171613.2(PREPL):c.1360C>T (p.His454Tyr)
NM_001171613.2(PREPL):c.1366C>T (p.Gln456Ter) rs1673549822
NM_001171613.2(PREPL):c.1369G>A (p.Gly457Ser) rs2103751191
NM_001171613.2(PREPL):c.1371C>G (p.Gly457=) rs2103751150
NM_001171613.2(PREPL):c.1378C>T (p.Gln460Ter)
NM_001171613.2(PREPL):c.137AAG[1] (p.Glu47del) rs1675572705
NM_001171613.2(PREPL):c.1395C>A (p.Thr465=)
NM_001171613.2(PREPL):c.1409G>A (p.Ser470Asn) rs2103750576
NM_001171613.2(PREPL):c.1412_1479+41del
NM_001171613.2(PREPL):c.1413T>A (p.Ala471=)
NM_001171613.2(PREPL):c.1413T>C (p.Ala471=)
NM_001171613.2(PREPL):c.1419G>A (p.Gly473=)
NM_001171613.2(PREPL):c.142+11A>G
NM_001171613.2(PREPL):c.142+12T>G
NM_001171613.2(PREPL):c.142+18T>C
NM_001171613.2(PREPL):c.142+5dup
NM_001171613.2(PREPL):c.142+7C>G
NM_001171613.2(PREPL):c.1428A>G (p.Ala476=)
NM_001171613.2(PREPL):c.142G>A (p.Ala48Thr) rs267599387
NM_001171613.2(PREPL):c.143-11del rs1558508562
NM_001171613.2(PREPL):c.143-16A>C
NM_001171613.2(PREPL):c.143-19C>A
NM_001171613.2(PREPL):c.143-3C>A
NM_001171613.2(PREPL):c.143-3C>T rs545943181
NM_001171613.2(PREPL):c.1433C>T (p.Ala478Val) rs1202291365
NM_001171613.2(PREPL):c.1434A>G (p.Ala478=)
NM_001171613.2(PREPL):c.1436T>C (p.Leu479Ser)
NM_001171613.2(PREPL):c.1445C>A (p.Ser482Tyr) rs13402626
NM_001171613.2(PREPL):c.1445C>T (p.Ser482Phe)
NM_001171613.2(PREPL):c.1467G>C (p.Ala489=)
NM_001171613.2(PREPL):c.1475T>A (p.Leu492Ter)
NM_001171613.2(PREPL):c.1479+20A>G
NM_001171613.2(PREPL):c.1479+9G>A
NM_001171613.2(PREPL):c.1480-15T>C
NM_001171613.2(PREPL):c.1480-3del rs763329621
NM_001171613.2(PREPL):c.1480-7T>C
NM_001171613.2(PREPL):c.1512G>T (p.Met504Ile) rs1396221301
NM_001171613.2(PREPL):c.1514A>G (p.Asp505Gly) rs772992697
NM_001171613.2(PREPL):c.1515C>T (p.Asp505=)
NM_001171613.2(PREPL):c.1521_1522dup (p.Leu508fs) rs1355856142
NM_001171613.2(PREPL):c.1527T>G (p.Pro509=) rs2103696019
NM_001171613.2(PREPL):c.1553G>A (p.Trp518Ter) rs1673169930
NM_001171613.2(PREPL):c.1557G>A (p.Gly519=)
NM_001171613.2(PREPL):c.1568C>G (p.Ser523Cys) rs1673168126
NM_001171613.2(PREPL):c.1569T>C (p.Ser523=) rs1181427435
NM_001171613.2(PREPL):c.1581C>T (p.His527=)
NM_001171613.2(PREPL):c.1594A>G (p.Lys532Glu)
NM_001171613.2(PREPL):c.1598G>A (p.Arg533His) rs375292548
NM_001171613.2(PREPL):c.1598G>T (p.Arg533Leu) rs375292548
NM_001171613.2(PREPL):c.159T>C (p.Tyr53=)
NM_001171613.2(PREPL):c.1624C>T (p.Pro542Ser) rs1436277134
NM_001171613.2(PREPL):c.1629+11A>T
NM_001171613.2(PREPL):c.1629+13A>G rs772363126
NM_001171613.2(PREPL):c.1629+30C>T
NM_001171613.2(PREPL):c.1629+5T>G rs777121021
NM_001171613.2(PREPL):c.1629+9A>G rs1247136692
NM_001171613.2(PREPL):c.1630-16A>G
NM_001171613.2(PREPL):c.1630-4_1630-3delinsAT rs1673117158
NM_001171613.2(PREPL):c.1630-5T>C rs2103687602
NM_001171613.2(PREPL):c.1636C>A (p.Pro546Thr)
NM_001171613.2(PREPL):c.1653G>A (p.Thr551=)
NM_001171613.2(PREPL):c.1666G>T (p.Asp556Tyr)
NM_001171613.2(PREPL):c.1672C>A (p.Arg558=)
NM_001171613.2(PREPL):c.1677A>G (p.Val559=) rs913408771
NM_001171613.2(PREPL):c.167del (p.Leu56fs) rs775517492
NM_001171613.2(PREPL):c.1688G>A (p.Gly563Glu)
NM_001171613.2(PREPL):c.1691T>C (p.Ile564Thr)
NM_001171613.2(PREPL):c.1703C>T (p.Thr568Ile)
NM_001171613.2(PREPL):c.1725C>G (p.Ile575Met)
NM_001171613.2(PREPL):c.1728G>A (p.Ala576=) rs757091047
NM_001171613.2(PREPL):c.1728G>T (p.Ala576=) rs757091047
NM_001171613.2(PREPL):c.1729G>T (p.Glu577Ter) rs983509465
NM_001171613.2(PREPL):c.1734T>C (p.His578=)
NM_001171613.2(PREPL):c.1743C>T (p.Asp581=)
NM_001171613.2(PREPL):c.1753+13dup rs750536957
NM_001171613.2(PREPL):c.1753+2T>C
NM_001171613.2(PREPL):c.1753+8A>T rs1553350931
NM_001171613.2(PREPL):c.1754-28T>C
NM_001171613.2(PREPL):c.1754-7C>T
NM_001171613.2(PREPL):c.175T>C (p.Leu59=)
NM_001171613.2(PREPL):c.1763C>G (p.Thr588Ser) rs1672994938
NM_001171613.2(PREPL):c.1767T>C (p.Pro589=)
NM_001171613.2(PREPL):c.1771ATT[1] (p.Ile592del) rs777599665
NM_001171613.2(PREPL):c.1784T>C (p.Ile595Thr)
NM_001171613.2(PREPL):c.1792G>C (p.Gly598Arg) rs1672990690
NM_001171613.2(PREPL):c.1798A>C (p.Asn600His) rs770897811
NM_001171613.2(PREPL):c.1799A>G (p.Asn600Ser)
NM_001171613.2(PREPL):c.179A>G (p.Glu60Gly) rs1207275366
NM_001171613.2(PREPL):c.1803T>C (p.His601=)
NM_001171613.2(PREPL):c.1815T>G (p.Asp605Glu) rs2103667636
NM_001171613.2(PREPL):c.1827+10C>G rs1295732711
NM_001171613.2(PREPL):c.1827+11A>T
NM_001171613.2(PREPL):c.1827+16C>T
NM_001171613.2(PREPL):c.1827+3A>G rs1228947728
NM_001171613.2(PREPL):c.1827+5G>A rs1672986669
NM_001171613.2(PREPL):c.1827+8A>T
NM_001171613.2(PREPL):c.1827G>T (p.Lys609Asn)
NM_001171613.2(PREPL):c.1828-13G>A
NM_001171613.2(PREPL):c.1828-14T>C
NM_001171613.2(PREPL):c.1828-17dup
NM_001171613.2(PREPL):c.1828-3_1828-2insCACAAATGTCCTATCTATGGGTGAGACCCAGGAGGGGAGGGAGGGACACTGTGTCAATCAAG
NM_001171613.2(PREPL):c.1828-7C>A rs781459763
NM_001171613.2(PREPL):c.1828-7C>T
NM_001171613.2(PREPL):c.1839A>C (p.Gln613His) rs574404474
NM_001171613.2(PREPL):c.1839A>G (p.Gln613=)
NM_001171613.2(PREPL):c.1839A>T (p.Gln613His) rs574404474
NM_001171613.2(PREPL):c.1848C>T (p.Phe616=) rs776568419
NM_001171613.2(PREPL):c.1850T>C (p.Leu617Pro) rs537620020
NM_001171613.2(PREPL):c.1851G>C (p.Leu617=) rs771707341
NM_001171613.2(PREPL):c.1863T>C (p.Leu621=)
NM_001171613.2(PREPL):c.1870G>C (p.Asp624His) rs969589260
NM_001171613.2(PREPL):c.1882G>T (p.Val628Phe) rs1433913896
NM_001171613.2(PREPL):c.1905C>A (p.Tyr635Ter) rs759556547
NM_001171613.2(PREPL):c.1908G>C (p.Leu636=)
NM_001171613.2(PREPL):c.196C>T (p.Gln66Ter) rs2103986758
NM_001171613.2(PREPL):c.198G>A (p.Gln66=) rs778184072
NM_001171613.2(PREPL):c.211T>A (p.Cys71Ser)
NM_001171613.2(PREPL):c.216C>T (p.Ile72=)
NM_001171613.2(PREPL):c.220G>C (p.Val74Leu) rs370857739
NM_001171613.2(PREPL):c.221T>G (p.Val74Gly) rs1572895694
NM_001171613.2(PREPL):c.229G>C (p.Asp77His)
NM_001171613.2(PREPL):c.238T>C (p.Tyr80His) rs2103986081
NM_001171613.2(PREPL):c.240T>C (p.Tyr80=)
NM_001171613.2(PREPL):c.241G>T (p.Val81Leu)
NM_001171613.2(PREPL):c.249C>T (p.Ala83=)
NM_001171613.2(PREPL):c.252G>C (p.Lys84Asn)
NM_001171613.2(PREPL):c.270T>C (p.Ser90=)
NM_001171613.2(PREPL):c.27A>G (p.Thr9=)
NM_001171613.2(PREPL):c.280A>G (p.Thr94Ala)
NM_001171613.2(PREPL):c.282C>T (p.Thr94=)
NM_001171613.2(PREPL):c.292A>G (p.Ile98Val) rs2103985444
NM_001171613.2(PREPL):c.300C>T (p.Leu100=)
NM_001171613.2(PREPL):c.303C>A (p.Ser101Arg) rs538321114
NM_001171613.2(PREPL):c.304G>A (p.Asp102Asn) rs761397318
NM_001171613.2(PREPL):c.304G>C (p.Asp102His)
NM_001171613.2(PREPL):c.312C>T (p.Pro104=) rs11542603
NM_001171613.2(PREPL):c.31T>G (p.Leu11Val) rs2104022746
NM_001171613.2(PREPL):c.326C>G (p.Ser109Cys)
NM_001171613.2(PREPL):c.332C>T (p.Pro111Leu)
NM_001171613.2(PREPL):c.333G>A (p.Pro111=) rs111330295
NM_001171613.2(PREPL):c.336T>C (p.Asn112=) rs772575204
NM_001171613.2(PREPL):c.342C>T (p.Ser114=)
NM_001171613.2(PREPL):c.348T>G (p.Phe116Leu) rs768746948
NM_001171613.2(PREPL):c.349+16A>G rs1675475052
NM_001171613.2(PREPL):c.349+18A>G
NM_001171613.2(PREPL):c.350-10_350-8del rs751258871
NM_001171613.2(PREPL):c.350-12_350-10del rs61004197
NM_001171613.2(PREPL):c.350-13T>G
NM_001171613.2(PREPL):c.350-16C>G
NM_001171613.2(PREPL):c.350-19T>C
NM_001171613.2(PREPL):c.350-1G>T
NM_001171613.2(PREPL):c.350-21_350-19del
NM_001171613.2(PREPL):c.355G>T (p.Val119Leu) rs1675337911
NM_001171613.2(PREPL):c.360G>A (p.Lys120=) rs2103969592
NM_001171613.2(PREPL):c.380T>C (p.Val127Ala) rs2103969323
NM_001171613.2(PREPL):c.390C>T (p.Tyr130=) rs2103969128
NM_001171613.2(PREPL):c.396C>T (p.Phe132=) rs1192368554
NM_001171613.2(PREPL):c.39A>G (p.Thr13=)
NM_001171613.2(PREPL):c.3G>T (p.Met1Ile) rs768841224
NM_001171613.2(PREPL):c.402G>C (p.Arg134Ser) rs769834327
NM_001171613.2(PREPL):c.405C>A (p.Asn135Lys) rs1675332417
NM_001171613.2(PREPL):c.406C>G (p.Leu136Val) rs1675332243
NM_001171613.2(PREPL):c.409C>T (p.Arg137Cys)
NM_001171613.2(PREPL):c.416A>C (p.His139Pro)
NM_001171613.2(PREPL):c.421G>A (p.Val141Ile)
NM_001171613.2(PREPL):c.425A>T (p.Tyr142Phe) rs778744293
NM_001171613.2(PREPL):c.432C>T (p.Ala144=)
NM_001171613.2(PREPL):c.434C>G (p.Thr145Ser)
NM_001171613.2(PREPL):c.435T>C (p.Thr145=)
NM_001171613.2(PREPL):c.440G>C (p.Gly147Ala)
NM_001171613.2(PREPL):c.448_451del (p.Lys150fs) rs779488471
NM_001171613.2(PREPL):c.465T>C (p.Phe155=)
NM_001171613.2(PREPL):c.470C>G (p.Thr157Arg) rs374720840
NM_001171613.2(PREPL):c.485+10T>A
NM_001171613.2(PREPL):c.485+4del
NM_001171613.2(PREPL):c.485+8A>G rs2103967683
NM_001171613.2(PREPL):c.485+9A>G
NM_001171613.2(PREPL):c.486-10C>T
NM_001171613.2(PREPL):c.486-18CT[6] rs750292662
NM_001171613.2(PREPL):c.486-18CT[7] rs750292662
NM_001171613.2(PREPL):c.486-18CT[9] rs750292662
NM_001171613.2(PREPL):c.486-19T>A
NM_001171613.2(PREPL):c.486-4C>G rs1217024448
NM_001171613.2(PREPL):c.498C>T (p.Phe166=) rs1230569140
NM_001171613.2(PREPL):c.505C>G (p.Leu169Val) rs532684912
NM_001171613.2(PREPL):c.505C>T (p.Leu169Phe)
NM_001171613.2(PREPL):c.509C>T (p.Thr170Ile) rs1674971927
NM_001171613.2(PREPL):c.520C>G (p.Arg174Gly)
NM_001171613.2(PREPL):c.521G>A (p.Arg174His) rs145964404
NM_001171613.2(PREPL):c.521G>C (p.Arg174Pro) rs145964404
NM_001171613.2(PREPL):c.521G>T (p.Arg174Leu) rs145964404
NM_001171613.2(PREPL):c.525C>T (p.Phe175=)
NM_001171613.2(PREPL):c.539T>G (p.Ile180Ser)
NM_001171613.2(PREPL):c.540T>C (p.Ile180=)
NM_001171613.2(PREPL):c.540del (p.Ile180_Met181insTer) rs1057523690
NM_001171613.2(PREPL):c.546C>A (p.Asn182Lys) rs200837029
NM_001171613.2(PREPL):c.549G>A (p.Lys183=) rs2103926652
NM_001171613.2(PREPL):c.564G>A (p.Val188=) rs1293632946
NM_001171613.2(PREPL):c.572T>G (p.Ile191Arg) rs1363159797
NM_001171613.2(PREPL):c.574G>A (p.Asp192Asn)
NM_001171613.2(PREPL):c.579C>T (p.Gly193=)
NM_001171613.2(PREPL):c.595C>G (p.Pro199Ala)
NM_001171613.2(PREPL):c.608T>C (p.Ile203Thr) rs947027506
NM_001171613.2(PREPL):c.623A>G (p.His208Arg)
NM_001171613.2(PREPL):c.630C>A (p.Val210=)
NM_001171613.2(PREPL):c.634del (p.Tyr212fs) rs2103925424
NM_001171613.2(PREPL):c.638A>C (p.Tyr213Ser) rs947243243
NM_001171613.2(PREPL):c.640G>C (p.Val214Leu)
NM_001171613.2(PREPL):c.641T>A (p.Val214Asp)
NM_001171613.2(PREPL):c.652G>A (p.Asp218Asn)
NM_001171613.2(PREPL):c.657T>G (p.Asp219Glu) rs762650967
NM_001171613.2(PREPL):c.672C>T (p.Leu224=)
NM_001171613.2(PREPL):c.68A>C (p.Asn23Thr) rs138377728
NM_001171613.2(PREPL):c.691A>G (p.Thr231Ala)
NM_001171613.2(PREPL):c.699T>G (p.Phe233Leu)
NM_001171613.2(PREPL):c.702+10G>A
NM_001171613.2(PREPL):c.702+16C>T
NM_001171613.2(PREPL):c.702+17G>T
NM_001171613.2(PREPL):c.702+19T>A
NM_001171613.2(PREPL):c.702+20G>T
NM_001171613.2(PREPL):c.702+7C>T rs1674951448
NM_001171613.2(PREPL):c.703-15C>G
NM_001171613.2(PREPL):c.703-20T>G rs1028855087
NM_001171613.2(PREPL):c.703-2A>G rs2103914962
NM_001171613.2(PREPL):c.703-4G>T
NM_001171613.2(PREPL):c.703-6A>G
NM_001171613.2(PREPL):c.703-7C>G rs1674874642
NM_001171613.2(PREPL):c.705A>C (p.Leu235=)
NM_001171613.2(PREPL):c.705A>G (p.Leu235=)
NM_001171613.2(PREPL):c.709A>C (p.Arg237=)
NM_001171613.2(PREPL):c.71_72insCT (p.Glu25fs)
NM_001171613.2(PREPL):c.721G>A (p.Asp241Asn) rs1674871167
NM_001171613.2(PREPL):c.725C>G (p.Thr242Ser)
NM_001171613.2(PREPL):c.727C>A (p.Pro243Thr) rs760265313
NM_001171613.2(PREPL):c.727C>T (p.Pro243Ser)
NM_001171613.2(PREPL):c.730del (p.Ala244fs)
NM_001171613.2(PREPL):c.75+10C>T
NM_001171613.2(PREPL):c.75+20del
NM_001171613.2(PREPL):c.75+5G>C
NM_001171613.2(PREPL):c.75+9T>C
NM_001171613.2(PREPL):c.759A>G (p.Thr253=) rs1424550193
NM_001171613.2(PREPL):c.75del (p.Val26fs) rs1675812434
NM_001171613.2(PREPL):c.76-10C>T rs1470050624
NM_001171613.2(PREPL):c.76-14G>A
NM_001171613.2(PREPL):c.76-17C>T
NM_001171613.2(PREPL):c.765G>A (p.Lys255=)
NM_001171613.2(PREPL):c.774A>C (p.Thr258=)
NM_001171613.2(PREPL):c.775A>G (p.Lys259Glu)
NM_001171613.2(PREPL):c.778G>T (p.Val260Leu) rs1674865285
NM_001171613.2(PREPL):c.780G>C (p.Val260=)
NM_001171613.2(PREPL):c.780G>T (p.Val260=)
NM_001171613.2(PREPL):c.792C>T (p.Asp264=) rs1572881157
NM_001171613.2(PREPL):c.816A>G (p.Leu272=)
NM_001171613.2(PREPL):c.825G>A (p.Lys275=)
NM_001171613.2(PREPL):c.826C>T (p.His276Tyr) rs1456483986
NM_001171613.2(PREPL):c.828C>T (p.His276=)
NM_001171613.2(PREPL):c.850G>A (p.Val284Met) rs774240653
NM_001171613.2(PREPL):c.867T>C (p.Asp289=)
NM_001171613.2(PREPL):c.874G>C (p.Val292Leu)
NM_001171613.2(PREPL):c.877C>T (p.Arg293Trp) rs745708452
NM_001171613.2(PREPL):c.888+10A>T
NM_001171613.2(PREPL):c.888+12T>G
NM_001171613.2(PREPL):c.888+13T>C
NM_001171613.2(PREPL):c.888+4del rs2103912340
NM_001171613.2(PREPL):c.888+8T>C
NM_001171613.2(PREPL):c.889-11T>A
NM_001171613.2(PREPL):c.889-17C>G
NM_001171613.2(PREPL):c.889-17_889-15del
NM_001171613.2(PREPL):c.889-20T>C
NM_001171613.2(PREPL):c.908G>A (p.Gly303Glu) rs1253183224
NM_001171613.2(PREPL):c.912C>T (p.Phe304=) rs2103839981
NM_001171613.2(PREPL):c.915A>G (p.Ile305Met)
NM_001171613.2(PREPL):c.920A>T (p.Asp307Val) rs1674235649
NM_001171613.2(PREPL):c.932A>G (p.Asp311Gly)
NM_001171613.2(PREPL):c.934C>T (p.Pro312Ser)
NM_001171613.2(PREPL):c.939G>T (p.Lys313Asn)
NM_001171613.2(PREPL):c.94_97del (p.Val32fs) rs1436090495
NM_001171613.2(PREPL):c.970C>T (p.Arg324Cys) rs770607340
NM_001171613.2(PREPL):c.971G>T (p.Arg324Leu) rs374093145
NM_001171613.2(PREPL):c.977C>G (p.Pro326Arg)
NM_001171613.2(PREPL):c.97T>G (p.Tyr33Asp)
NM_001171613.2(PREPL):c.981A>G (p.Lys327=) rs2103839067
NM_001171613.2(PREPL):c.981dup (p.Tyr328fs) rs1553354962
NM_001171613.2(PREPL):c.983A>G (p.Tyr328Cys)
NM_001171613.2(PREPL):c.984T>C (p.Tyr328=)
NM_001171613.2(PREPL):c.993C>T (p.Tyr331=)

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